Incidental Mutation 'R1747:Cyp3a59'
| ID |
194043 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a59
|
| Ensembl Gene |
ENSMUSG00000061292 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 59 |
| Synonyms |
|
| MMRRC Submission |
039779-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1747 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
146016067-146050097 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 146041568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 371
(I371V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035571]
[ENSMUST00000199212]
|
| AlphaFold |
D3Z2W7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035571
AA Change: I371V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049494
Gene: ENSMUSG00000061292
AA Change: I371V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
493 |
5.3e-128 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199212
|
| SMART Domains |
Protein: ENSMUSP00000142591
Gene: ENSMUSG00000061292
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:p450
|
38 |
148 |
3.3e-20 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.7%
|
| Validation Efficiency |
97% (65/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
C |
T |
8: 13,608,814 (GRCm39) |
S117N |
probably damaging |
Het |
| Acat3 |
A |
G |
17: 13,143,695 (GRCm39) |
I349T |
possibly damaging |
Het |
| Add3 |
A |
G |
19: 53,230,981 (GRCm39) |
N552S |
probably benign |
Het |
| Ak3 |
G |
T |
19: 29,000,261 (GRCm39) |
P217T |
possibly damaging |
Het |
| Aox1 |
A |
T |
1: 58,378,751 (GRCm39) |
D1000V |
probably benign |
Het |
| Ap1m2 |
A |
G |
9: 21,216,982 (GRCm39) |
M118T |
probably damaging |
Het |
| Arhgap28 |
C |
A |
17: 68,208,304 (GRCm39) |
A105S |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,073,332 (GRCm39) |
E1368G |
probably damaging |
Het |
| Armc7 |
G |
A |
11: 115,379,583 (GRCm39) |
V94I |
probably benign |
Het |
| Asxl1 |
C |
A |
2: 153,235,374 (GRCm39) |
T223N |
possibly damaging |
Het |
| Btbd8 |
T |
C |
5: 107,599,865 (GRCm39) |
S119P |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,597,907 (GRCm39) |
K1078E |
probably damaging |
Het |
| Cpne8 |
G |
A |
15: 90,469,118 (GRCm39) |
T158I |
probably benign |
Het |
| Csn1s2b |
T |
C |
5: 87,964,529 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,725,675 (GRCm39) |
F710L |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,310,773 (GRCm39) |
D126G |
probably damaging |
Het |
| Dnm3 |
G |
A |
1: 162,141,153 (GRCm39) |
R369C |
probably damaging |
Het |
| Dst |
A |
C |
1: 34,199,790 (GRCm39) |
Q86P |
probably damaging |
Het |
| Ern2 |
C |
A |
7: 121,773,042 (GRCm39) |
|
probably null |
Het |
| Ern2 |
T |
A |
7: 121,773,043 (GRCm39) |
|
probably null |
Het |
| Exoc6 |
T |
A |
19: 37,628,217 (GRCm39) |
|
probably null |
Het |
| Glg1 |
G |
A |
8: 111,924,305 (GRCm39) |
R228C |
probably damaging |
Het |
| Gm4736 |
G |
A |
6: 132,092,633 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn2 |
G |
C |
2: 31,347,997 (GRCm39) |
G4881A |
probably benign |
Het |
| Htr2a |
T |
G |
14: 74,943,593 (GRCm39) |
F391C |
probably damaging |
Het |
| Htr5b |
A |
T |
1: 121,455,647 (GRCm39) |
V91E |
probably damaging |
Het |
| Ifi44 |
T |
A |
3: 151,454,922 (GRCm39) |
H101L |
probably benign |
Het |
| Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
| Klhl6 |
T |
A |
16: 19,765,778 (GRCm39) |
H608L |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,322,966 (GRCm39) |
V1150A |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,932,007 (GRCm39) |
F3545S |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,941,489 (GRCm39) |
D822G |
possibly damaging |
Het |
| Nbas |
G |
A |
12: 13,385,899 (GRCm39) |
S721N |
probably benign |
Het |
| Nog |
T |
A |
11: 89,192,408 (GRCm39) |
M147L |
probably benign |
Het |
| Npr1 |
C |
T |
3: 90,365,976 (GRCm39) |
C605Y |
possibly damaging |
Het |
| Or7e173 |
A |
C |
9: 19,938,613 (GRCm39) |
V207G |
probably benign |
Het |
| Or8k21 |
G |
A |
2: 86,145,211 (GRCm39) |
L140F |
probably benign |
Het |
| Pgs1 |
A |
G |
11: 117,892,457 (GRCm39) |
S10G |
probably benign |
Het |
| Pla2g4c |
T |
C |
7: 13,071,655 (GRCm39) |
|
probably benign |
Het |
| Prdm14 |
C |
T |
1: 13,192,627 (GRCm39) |
V371I |
possibly damaging |
Het |
| Prom1 |
C |
T |
5: 44,164,373 (GRCm39) |
V703I |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,230,688 (GRCm39) |
T260A |
possibly damaging |
Het |
| Scnn1g |
A |
T |
7: 121,359,686 (GRCm39) |
I390F |
probably damaging |
Het |
| Scrt2 |
C |
T |
2: 151,935,638 (GRCm39) |
H264Y |
probably damaging |
Het |
| Sel1l3 |
C |
T |
5: 53,302,887 (GRCm39) |
E661K |
possibly damaging |
Het |
| Skic2 |
G |
T |
17: 35,066,782 (GRCm39) |
P162H |
probably benign |
Het |
| Slc10a5 |
G |
T |
3: 10,400,451 (GRCm39) |
Q70K |
probably benign |
Het |
| Smg8 |
A |
G |
11: 86,976,129 (GRCm39) |
V484A |
possibly damaging |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Stag1 |
T |
A |
9: 100,770,353 (GRCm39) |
S630T |
probably benign |
Het |
| Thyn1 |
A |
C |
9: 26,916,509 (GRCm39) |
Q98P |
probably damaging |
Het |
| Ttc7 |
A |
G |
17: 87,614,443 (GRCm39) |
R203G |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,708,860 (GRCm39) |
|
probably benign |
Het |
| Vmn1r236 |
C |
T |
17: 21,507,179 (GRCm39) |
S99L |
probably benign |
Het |
| Vmn2r50 |
T |
A |
7: 9,781,605 (GRCm39) |
H380L |
probably benign |
Het |
| Vmn2r73 |
A |
T |
7: 85,507,375 (GRCm39) |
C646S |
probably damaging |
Het |
| Wnt10b |
A |
G |
15: 98,672,214 (GRCm39) |
S168P |
probably benign |
Het |
| Zc3h7a |
A |
G |
16: 10,963,117 (GRCm39) |
M748T |
possibly damaging |
Het |
| Zfp804b |
C |
G |
5: 6,820,217 (GRCm39) |
E913Q |
probably benign |
Het |
| Zfp974 |
G |
T |
7: 27,610,506 (GRCm39) |
F406L |
possibly damaging |
Het |
| Zic4 |
G |
A |
9: 91,266,199 (GRCm39) |
C274Y |
probably damaging |
Het |
|
| Other mutations in Cyp3a59 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01120:Cyp3a59
|
APN |
5 |
146,039,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01129:Cyp3a59
|
APN |
5 |
146,035,089 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01628:Cyp3a59
|
APN |
5 |
146,036,629 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01982:Cyp3a59
|
APN |
5 |
146,041,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02094:Cyp3a59
|
APN |
5 |
146,041,631 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02140:Cyp3a59
|
APN |
5 |
146,039,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02350:Cyp3a59
|
APN |
5 |
146,016,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02357:Cyp3a59
|
APN |
5 |
146,016,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02445:Cyp3a59
|
APN |
5 |
146,033,463 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02681:Cyp3a59
|
APN |
5 |
146,027,556 (GRCm39) |
splice site |
probably benign |
|
|
IGL02870:Cyp3a59
|
APN |
5 |
146,034,994 (GRCm39) |
missense |
probably benign |
|
|
IGL03023:Cyp3a59
|
APN |
5 |
146,022,660 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4802001:Cyp3a59
|
UTSW |
5 |
146,039,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0220:Cyp3a59
|
UTSW |
5 |
146,035,080 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0532:Cyp3a59
|
UTSW |
5 |
146,033,463 (GRCm39) |
nonsense |
probably null |
|
|
R1084:Cyp3a59
|
UTSW |
5 |
146,033,484 (GRCm39) |
missense |
probably benign |
|
|
R1263:Cyp3a59
|
UTSW |
5 |
146,041,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1573:Cyp3a59
|
UTSW |
5 |
146,039,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Cyp3a59
|
UTSW |
5 |
146,035,060 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1812:Cyp3a59
|
UTSW |
5 |
146,039,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Cyp3a59
|
UTSW |
5 |
146,031,187 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2026:Cyp3a59
|
UTSW |
5 |
146,033,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Cyp3a59
|
UTSW |
5 |
146,041,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2355:Cyp3a59
|
UTSW |
5 |
146,036,622 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3721:Cyp3a59
|
UTSW |
5 |
146,033,407 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4013:Cyp3a59
|
UTSW |
5 |
146,016,193 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4421:Cyp3a59
|
UTSW |
5 |
146,041,713 (GRCm39) |
splice site |
probably null |
|
|
R4432:Cyp3a59
|
UTSW |
5 |
146,041,596 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4633:Cyp3a59
|
UTSW |
5 |
146,031,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4843:Cyp3a59
|
UTSW |
5 |
146,033,071 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4886:Cyp3a59
|
UTSW |
5 |
146,024,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5236:Cyp3a59
|
UTSW |
5 |
146,039,635 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5386:Cyp3a59
|
UTSW |
5 |
146,022,578 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5627:Cyp3a59
|
UTSW |
5 |
146,049,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5792:Cyp3a59
|
UTSW |
5 |
146,036,661 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5935:Cyp3a59
|
UTSW |
5 |
146,027,455 (GRCm39) |
nonsense |
probably null |
|
|
R6531:Cyp3a59
|
UTSW |
5 |
146,035,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6790:Cyp3a59
|
UTSW |
5 |
146,033,143 (GRCm39) |
missense |
probably benign |
|
|
R7108:Cyp3a59
|
UTSW |
5 |
146,033,143 (GRCm39) |
missense |
probably benign |
|
|
R7222:Cyp3a59
|
UTSW |
5 |
146,033,385 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7447:Cyp3a59
|
UTSW |
5 |
146,024,215 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7457:Cyp3a59
|
UTSW |
5 |
146,041,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7723:Cyp3a59
|
UTSW |
5 |
146,016,154 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8171:Cyp3a59
|
UTSW |
5 |
146,022,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8417:Cyp3a59
|
UTSW |
5 |
146,027,495 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8474:Cyp3a59
|
UTSW |
5 |
146,041,487 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8716:Cyp3a59
|
UTSW |
5 |
146,033,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8728:Cyp3a59
|
UTSW |
5 |
146,035,122 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8839:Cyp3a59
|
UTSW |
5 |
146,045,896 (GRCm39) |
missense |
probably benign |
|
|
R8969:Cyp3a59
|
UTSW |
5 |
146,049,630 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9478:Cyp3a59
|
UTSW |
5 |
146,034,997 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9697:Cyp3a59
|
UTSW |
5 |
146,031,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9705:Cyp3a59
|
UTSW |
5 |
146,033,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Cyp3a59
|
UTSW |
5 |
146,035,032 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTCCCTCCCAAATGAGAATGG -3'
(R):5'- CCTGACTGGTTCATGGTGGAAATCC -3'
Sequencing Primer
(F):5'- ATCTGGGCAGGGGAGTATCC -3'
(R):5'- GGAAATCCATTTCCAACATCTCTG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation